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CHNG4
MCID: HYP795
MIFTS: 53

Hypothyroidism, Congenital, Nongoitrous, 4 (CHNG4)

Categories: Bone diseases, Ear diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 4

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MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 4:

Name: Hypothyroidism, Congenital, Nongoitrous, 4 57 71
Tsh Deficiency 57 19 53
Congenital Nongoitrous Hypothyroidism 4 11 14
Thyroid-Stimulating Hormone Deficiency 57 5
Thyrotropin Deficiency, Isolated 57 19
Isolated Thyrotropin Deficiency 11 58
Pituitary Cretinism 57 19
Chng4 57 11
Isolated Thyroid-Stimulating Hormone Deficiency 58
Hypothyroidism, Congenital, Nongoitrous, Type 4 38
Tsh - [thyroid Stimulating Hormone] Deficiency 33
Thyroid-Stimulating Hormone, Deficiency of 19
Hypothyroidism, Congenital, Nongoitrous 4 57
Secondary Hypothyroidism 71
Isolated Tsh Deficiency 58

Characteristics:


Inheritance:

Hypothyroidism, Congenital, Nongoitrous, 4: Autosomal recessive 57
Isolated Thyroid-Stimulating Hormone Deficiency: Autosomal recessive 58

Age Of Onset:

Isolated Thyroid-Stimulating Hormone Deficiency: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare endocrine diseases


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Summaries for Hypothyroidism, Congenital, Nongoitrous, 4

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Disease Ontology: 11 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has material basis in homozygous mutation in the TSHB gene on chromosome 1p13.

MalaCards based summary: Hypothyroidism, Congenital, Nongoitrous, 4, also known as tsh deficiency, is related to hypothyroidism, congenital, nongoitrous, 1 and graves disease 1. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 4 is TSHB (Thyroid Stimulating Hormone Subunit Beta), and among its related pathways/superpathways are Peptide hormone metabolism and Growth hormone receptor signaling. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and skin, and related phenotypes are thyroid hypoplasia and pituitary hypothyroidism

GARD: 19 A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

Orphanet: 58 A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

More information from OMIM: 275100 PS275200
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Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 4

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Diseases in the Hypothyroidism, Congenital, Nongoitrous, 1 family:

Hypothyroidism, Congenital, Nongoitrous, 2 Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital, Nongoitrous, 4 Hypothyroidism, Congenital, Nongoitrous, 8
Hypothyroidism, Congenital, Nongoitrous, 9 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6 Hypothyroidism, Congenital, Nongoitrous, 7

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 1 30.9 TSHB TG
2 graves disease 1 29.7 TPO TG POMC
3 acth deficiency, isolated 29.7 PROP1 PRL POU1F1 POMC
4 conn's syndrome 29.6 PRL POMC IGF1 GH1
5 goiter 29.5 TPO TG PRL IGF1
6 hyperprolactinemia 29.4 PRL POMC IGF1 GH1
7 empty sella syndrome 29.4 PROP1 PRL POU1F1 POMC IGF1 GH1
8 myxedema 29.3 TSHB TPO TG POMC
9 hypopituitarism 29.3 PROP1 PRL POU1F1 POMC IGF1 GH1
10 adult syndrome 29.3 POMC IGF1
11 pituitary gland disease 29.0 TSHB PROP1 PRL POU1F1 POMC IGF1
12 functioning pituitary adenoma 29.0 TSHB PRL POU1F1 POMC IGF1 GH1
13 pituitary adenoma 29.0 TSHB PRL POU1F1 POMC IGF1 GH1
14 pituitary hormone deficiency, combined, 2 28.8 TSHB PROP1 PRL POU1F1 POMC IGF1
15 congenital hypothyroidism 28.8 TSHB TPO TG PROP1 PRL POU1F1
16 adenoma 28.7 TSHB TG PRL POU1F1 POMC IGF1
17 hyperthyroidism 28.6 TPO TG PRL POMC IGF1 GH1
18 hypothyroidism 28.3 TSHB TPO TG PROP1 PRL POU1F1
19 thyroid-stimulating hormone level quantitative trait locus 1 11.0
20 central congenital hypothyroidism 10.4
21 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.3 PROP1 POU1F1
22 combined pituitary hormone deficiencies, genetic forms 10.3 PROP1 POU1F1
23 suprasellar meningioma 10.2 TSHB POMC
24 chiasmal syndrome 10.2 PRL POMC
25 tuberculum sellae meningioma 10.2 PRL POMC
26 sella turcica neoplasm 10.2 PRL POMC
27 ectopic cushing syndrome 10.2 PRL POMC
28 abducens palsy 10.2 PRL POMC
29 premature ovarian failure 7 10.2 POMC GH1
30 melanotic neurilemmoma 10.2 PRL POMC
31 gangliocytoma 10.2 PRL POMC
32 adamantinous craniopharyngioma 10.2 PROP1 POMC
33 melancholia 10.2 PRL POMC
34 nelson syndrome 10.2 PRL POMC
35 sexual sadism 10.2 PRL POMC
36 thyroid hormone resistance, selective pituitary 10.2 TSHB TG
37 cranial nerve palsy 10.2 PRL POMC
38 galactorrhea 10.2 PRL IGF1
39 inappropriate adh syndrome 10.2 PRL POMC
40 ovarian benign neoplasm 10.1 TG PRL
41 steroid inherited metabolic disorder 10.1 PRL POMC
42 17-beta hydroxysteroid dehydrogenase iii deficiency 10.1 POMC GH1
43 telogen effluvium 10.1 PRL IGF1
44 ovarian serous adenofibroma 10.1 TG POMC
45 mixed cell adenoma 10.1 PRL IGF1
46 functionless pituitary adenoma 10.1 POMC IGF1
47 tsh producing pituitary tumor 10.1 TSHB PRL POMC
48 acth-secreting pituitary adenoma 10.1 PRL POMC
49 thyroid hormone resistance, generalized, autosomal dominant 10.1 TSHB TG
50 marasmus 10.1 IGF1 GH1

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 4:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4
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Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 4

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Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

58 30 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thyroid hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005990
2 pituitary hypothyroidism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008245
3 decreased thyroid-stimulating hormone level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031098
4 reduced radioactive iodine uptake 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031219
5 abnormal circulating thyroglobulin level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0025483
6 increased pituitary glycoprotein hormone alpha subunit level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031208
7 decreased circulating t4 concentration 30 Hallmark (90%) HP:0031507
8 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
9 constipation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002019
10 hypothermia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002045
11 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000158
12 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002750
13 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005280
14 macroorchidism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000053
15 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001537
16 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008872
17 fatigue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012378
18 dry skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000958
19 growth delay 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001510
20 neurodevelopmental delay 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012758
21 hypercholesterolemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003124
22 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001265
23 delayed cranial suture closure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000270
24 prolonged neonatal jaundice 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006579
25 hoarse cry 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001615
26 large posterior fontanelle 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004491
27 large sella turcica 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002690
28 facial edema 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000282
29 neonatal hyperbilirubinemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003265
30 increased circulating prolactin concentration 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000870
31 delayed proximal femoral epiphyseal ossification 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008828
32 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001252
33 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007018
34 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001254
35 clumsiness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002312
36 bradycardia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001662
37 depression 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000716
38 goiter 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000853
39 intellectual disability, severe 30 HP:0010864
40 abnormality of epiphysis morphology 58 Frequent (79-30%)
41 hoarse voice 58 Frequent (79-30%)
42 intellectual disability, progressive 30 HP:0006887
43 wide anterior fontanel 30 HP:0000260
44 omphalocele 30 HP:0001539
45 abnormality of metabolism/homeostasis 30 HP:0001939
46 severe postnatal growth retardation 30 HP:0008850
47 generalized hypotonia 30 HP:0001290
48 congenital hypothyroidism 30 HP:0000851
49 autoimmune antibody positivity 58 Excluded (0%)
50 decreased circulating thyroxine level 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
depressed nasal bridge

Voice:
hoarse cry

Neurologic Central Nervous System:
mental retardation, severe (if untreated)

Skeletal Skull:
large anterior fontanelle
open posterior fontanelle

Head And Neck Mouth:
macroglossia

Abdomen External Features:
umbilical hernia
omphalocele (rare)

Growth Other:
growth retardation, severe (if untreated)

Endocrine Features:
hypothyroidism, nongoitrous

Laboratory Abnormalities:
low to normal tsh (values may vary depending on the measurement methods used)

Clinical features from OMIM®:

275100 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.02 GH1 IGF1 PBX1 POMC POU1F1 PRL
2 homeostasis/metabolism MP:0005376 10.02 GH1 IGF1 PBX1 POMC POU1F1 PRL
3 growth/size/body region MP:0005378 9.81 GH1 IGF1 PBX1 POMC POU1F1 PROP1
4 hearing/vestibular/ear MP:0005377 9.65 IGF1 PBX1 POU1F1 TG TPO
5 endocrine/exocrine gland MP:0005379 9.61 GH1 IGF1 PBX1 POMC POU1F1 PRL
6 reproductive system MP:0005389 9.23 GH1 IGF1 PBX1 POU1F1 PRL PROP1
Sources

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 4

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Drugs for Hypothyroidism, Congenital, Nongoitrous, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational 68-04-2 23431961
2
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
3 Hormones
4 Citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomised, Controlled, Crossover Study: Treatment With Thyroxin Compared to Thyroxin + Triiodothyronin in Patients With Secondary Hypothyroidism Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
2 Association of Continuous Veno-venous Hemodiafiltration With Citrate Anticoagulation to Thyroid Function in Critically Ill Patients Completed NCT04767763
3 Rate of Recovery of Secondary Hypothyroidism in Patients With Pituitary Disorders. Not yet recruiting NCT05276856 Levothyroxine

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 4

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Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 4

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Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 4

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Organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 4:

MalaCards : Thyroid, Pituitary, Skin, Brain, Hypothalamus, Bone, Breast
ODiseA: Thyroid
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Publications for Hypothyroidism, Congenital, Nongoitrous, 4

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Articles related to Hypothyroidism, Congenital, Nongoitrous, 4:

(show top 50) (show all 268)
# Title Authors PMID Year
1
New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. 53 62 57 5
11549695 2001
2
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. 62 57 5
15292359 2004
3
Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect. 62 57 5
12364478 2002
4
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. 62 57 5
11788671 2002
5
Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance. 62 57 5
9589689 1998
6
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. 62 57 5
1971148 1990
7
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. 62 57 5
2792087 1989
8
Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. 57 5
11297590 2001
9
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. 57 5
8636437 1996
10
Isolated thyrotropin deficiency in a man with narcoleptic attacks. 62 57
6293273 1982
11
Pituitary cretinism in two sisters. 62 57
7436542 1980
12
Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism. 62 57
809459 1975
13
Familial isolated thyrotropin deficiency with cretinism. 62 57
4106196 1971
14
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine. 5
17287585 2007
15
Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin. 57
109460 1979
16
The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease. 57
647990 1978
17
Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides. 57
4364811 1974
18
Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase". 57
4627366 1972
19
Hypothalamic hypothyroidism. 57
4998943 1971
20
Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin. 57
5780370 1969
21
Thyrotropin hormone deficiency with a peripheral neuropathy. 57
4301577 1968
22
Isolated lack of thyrotropin in man. 57
5926947 1966
23
Isolated deficiencies of anterior pituitary hormones. Symptoms and diagnosis. 57
4288285 1966
24
W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. 53 62
20381582 2010
25
Hypopituitarism oddities: congenital causes. 53 62
18174732 2007
26
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 53 62
16735499 2006
27
A case of macroprolactinoma and elevated insulin-like growth factor-I in a young boy. 53 62
16421054 2005
28
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. 53 62
15928241 2005
29
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 53 62
15472232 2004
30
DNA testing in patients with GH deficiency at the time of transition. 53 62
12914740 2003
31
Efficacy of radiotherapy in normalizing serum IGF-I, acid-labile subunit (ALS) and IGFBP-3 levels in acromegaly. 53 62
11531924 2001
32
Severe hypoglycemia and reduction of insulin requirement in a girl with insulin-dependent diabetes mellitus: first sign of a craniopharyngioma. 53 62
10703545 1999
33
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). 53 62
9768691 1998
34
Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene. 53 62
9806481 1998
35
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. 53 62
9632165 1998
36
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. 53 62
9626142 1998
37
Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred. 53 62
9699131 1998
38
Description of a Brazilian patient bearing the R271W Pit-1 gene mutation. 53 62
9588494 1998
39
Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. 53 62
9485179 1998
40
Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred. 53 62
9438923 1997
41
GH and TSH deficiency. 53 62
9439906 1997
42
[Homeoproteins and pituitary adenoma]. 53 62
9207961 1997
43
[Molecular genetics of congenital isolated thyrotropin deficiency]. 53 62
8196185 1994
44
Congenital hypothyroidism: etiology and pathogenesis. 53 62
7879996 1994
45
[Mechanism of regulation of TSH--biosynthesis and secretion]. 53 62
8254929 1993
46
[Acquired corticotropin insufficiency in adults. 2 new cases]. 53 62
8191076 1993
47
Genetics of growth hormone gene expression. 53 62
8300051 1993
48
Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency. 53 62
1811097 1991
49
A case of severe pituitary dwarfism associated with prolactin and thyroid stimulating hormone deficiencies. 53 62
2085115 1990
50
Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency. 53 62
2401711 1990
Sources

Variations for Hypothyroidism, Congenital, Nongoitrous, 4

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ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 4:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSHB NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) SNV Pathogenic
 12684 rs121918668 GRCh37: 1:115576128-115576128
GRCh38: 1:115033507-115033507
2 TSHB NM_000549.5(TSHB):c.94G>T (p.Glu32Ter) SNV Pathogenic
 12685 rs121918669 GRCh37: 1:115576077-115576077
GRCh38: 1:115033456-115033456
3 TSHB NM_000549.5(TSHB):c.373del (p.Cys125fs) DEL Pathogenic
 437070 rs755485552 GRCh37: 1:115576804-115576804
GRCh38: 1:115034183-115034183
4 TSHB NM_000549.5(TSHB):c.108_109del (p.Ala37fs) MICROSAT Pathogenic
 1048762 GRCh37: 1:115576088-115576089
GRCh38: 1:115033467-115033468
5 TSHB NM_000549.5(TSHB):c.162+5G>A SNV Pathogenic
 12688 rs868637545 GRCh37: 1:115576150-115576150
GRCh38: 1:115033529-115033529
6 TSHB NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) SNV Pathogenic/Likely Pathogenic
 12687 rs121918670 GRCh37: 1:115576636-115576636
GRCh38: 1:115034015-115034015
7 TSHB NM_000549.5(TSHB):c.374G>A (p.Cys125Tyr) SNV Uncertain Significance
 976259 rs1430091875 GRCh37: 1:115576805-115576805
GRCh38: 1:115034184-115034184
8 TSHB NM_000549.5(TSHB):c.*64T>C SNV Uncertain Significance
 875322 rs41312672 GRCh37: 1:115576912-115576912
GRCh38: 1:115034291-115034291
9 TSHB NM_000549.5(TSHB):c.256G>A (p.Gly86Arg) SNV Uncertain Significance
 291985 rs190110651 GRCh37: 1:115576687-115576687
GRCh38: 1:115034066-115034066
10 TSHB NM_000549.5(TSHB):c.-13A>G SNV Likely Benign
 291984 rs77331078 GRCh37: 1:115572470-115572470
GRCh38: 1:115029849-115029849
11 TSHB NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) SNV Likely Benign
 764732 rs201857310 GRCh37: 1:115576654-115576654
GRCh38: 1:115034033-115034033
12 TSHB NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) SNV Benign
 256640 rs10776792 GRCh37: 1:115576023-115576023
GRCh38: 1:115033402-115033402
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Expression for Hypothyroidism, Congenital, Nongoitrous, 4

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Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 4.
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Pathways for Hypothyroidism, Congenital, Nongoitrous, 4

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Pathways related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peptide hormone metabolism 66
Show member pathways
 11.49 TSHB POMC IGF1 GH1
2
Growth hormone receptor signaling 66
Show member pathways
 10.96 PRL GH1
3
Metabolism of amine-derived hormones 66
Show member pathways
 10.83 TSHB TPO
4
Glucocorticoid receptor regulatory network 61
10.81 PRL POU1F1 POMC PBX1
5
Thyroxine (thyroid hormone) production 74
10.56 TPO TG
6
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.46 PRL POMC
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GO Terms for Hypothyroidism, Congenital, Nongoitrous, 4

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Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.92 PRL GH1

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic hemopoiesis GO:0035162 9.62 TPO PBX1
2 thyroid hormone generation GO:0006590 9.56 TPO TG
3 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 IGF1 GH1
4 hormone biosynthetic process GO:0042446 9.26 TPO TG
5 adenohypophysis development GO:0021984 8.8 PROP1 POU1F1

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.4 TSHB TG PRL POMC IGF1 GH1
2 prolactin receptor binding GO:0005148 9.26 PRL GH1
Sources

Sources for Hypothyroidism, Congenital, Nongoitrous, 4

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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